Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G457R
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COL1A2

NM_000089.4:p.G457R

Associated Papers

Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

Dawson PA et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."